HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715902T>G , CM000684.2:g.37715902T>G | GRCh38 |
NC_000022.10:g.38111909T>G , CM000684.1:g.38111909T>G | GRCh37 |
NC_000022.9:g.36441855T>G | NCBI36 |
NG_012857.1:g.23915T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.596T>G MANE Select | ENSP00000496394.1:p.Val199Gly | |
ENST00000344404.10:c.*79T>G | ENSP00000340312.6:n.*79T>G | |
ENST00000406386.7:c.596T>G | ENSP00000384312.3:p.Val199Gly | |
ENST00000455236.4:c.1553T>G | ENSP00000477208.1:n.1553T>G | |
ENST00000492485.5:n.530T>G | ||
NM_001039141.2:c.596T>G | NP_001034230.1:p.Val199Gly | |
NM_001039141.3:c.596T>G MANE Select | NP_001034230.1:p.Val199Gly |